Literature DB >> 21484994

WNT10A and isolated hypodontia.

Piranit Kantaputra1, Warissara Sripathomsawat.   

Abstract

WNT10A has been associated with various syndromes with ectodermal dysplasia from severe autosomal recessive SchO?pf-Schulz-Passarge syndrome to odonto-onycho-dermal dysplasia and autosomal dominant hypodontia. We report WNT10A mutations in an American family of which four members are affected with isolated hypodontia or microdontia. Here we demonstrate that in addition to MSX1, PAX9, AXIN2, and EDA, mutations in WNT10A can cause isolated hypodontia.

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Year:  2011        PMID: 21484994     DOI: 10.1002/ajmg.a.33840

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  25 in total

Review 1.  A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.

Authors:  Kevin A Maupin; Casey J Droscha; Bart O Williams
Journal:  Bone Res       Date:  2013-03-29       Impact factor: 13.567

Review 2.  Genetic Basis of Nonsyndromic and Syndromic Tooth Agenesis.

Authors:  Xiaoqian Ye; Ali B Attaie
Journal:  J Pediatr Genet       Date:  2016-09-26

3.  A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.

Authors:  Nuriye Dinckan; Renqian Du; Zeynep C Akdemir; Yavuz Bayram; Shalini N Jhangiani; Harsha Doddapaneni; Jianhong Hu; Donna M Muzny; Yeliz Guven; Oya Aktoren; Hulya Kayserili; Eric Boerwinkle; Richard A Gibbs; Jennifer E Posey; James R Lupski; Zehra O Uyguner; Ariadne Letra
Journal:  Am J Med Genet A       Date:  2018-02-13       Impact factor: 2.802

4.  [Detection and functional analysis of BMP2 gene mutation in patients with tooth agenesis].

Authors:  H Wang; Y Liu; H C Liu; D Han; H L Feng
Journal:  Beijing Da Xue Xue Bao Yi Xue Ban       Date:  2019-02-18

5.  Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

Authors:  N Dinckan; R Du; L E Petty; Z Coban-Akdemir; S N Jhangiani; I Paine; E H Baugh; A P Erdem; H Kayserili; H Doddapaneni; J Hu; D M Muzny; E Boerwinkle; R A Gibbs; J R Lupski; Z O Uyguner; J E Below; A Letra
Journal:  J Dent Res       Date:  2017-08-16       Impact factor: 6.116

6.  Variability in dentofacial phenotypes in four families with WNT10A mutations.

Authors:  Christian P Vink; Charlotte W Ockeloen; Sietske ten Kate; David A Koolen; Johannes Kristian Ploos van Amstel; Anne-Marie Kuijpers-Jagtman; Celeste C van Heumen; Tjitske Kleefstra; Carine E L Carels
Journal:  Eur J Hum Genet       Date:  2014-01-08       Impact factor: 4.246

7.  Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Authors:  Renqian Du; Nuriye Dinckan; Xiaofei Song; Zeynep Coban-Akdemir; Shalini N Jhangiani; Yeliz Guven; Oya Aktoren; Hulya Kayserili; Lauren E Petty; Donna M Muzny; Jennifer E Below; Eric Boerwinkle; Nan Wu; Richard A Gibbs; Jennifer E Posey; James R Lupski; Ariadne Letra; Z Oya Uyguner
Journal:  Hum Genet       Date:  2018-07-26       Impact factor: 4.132

8.  Functional evaluation of a novel tooth agenesis-associated bone morphogenetic protein 4 prodomain mutation.

Authors:  Yanyu Huang; Yongbo Lu; Gabriele Mues; Suzhen Wang; John Bonds; Rena D'Souza
Journal:  Eur J Oral Sci       Date:  2013-05-18       Impact factor: 2.612

9.  Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.

Authors:  Yasmin A Issa; Lara Kamal; Amal Abu Rayyan; Dima Dweik; Sarah Pierce; Ming K Lee; Mary-Claire King; Tom Walsh; Moien Kanaan
Journal:  Eur J Hum Genet       Date:  2016-04-06       Impact factor: 4.246

Review 10.  Wnt and the Wnt signaling pathway in bone development and disease.

Authors:  Yiping Wang; Yi-Ping Li; Christie Paulson; Jian-Zhong Shao; Xiaoling Zhang; Mengrui Wu; Wei Chen
Journal:  Front Biosci (Landmark Ed)       Date:  2014-01-01
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